title: Clinical expression of Menkes syndrome in females.
abstract: Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism).
authors.affiliation: John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: A M
authors.initials: AM
authors.lastname: Gerdes
authors.forename: T
authors.initials: T
authors.lastname: Tønnesen
authors.forename: N
authors.initials: N
authors.lastname: Horn
authors.forename: T
authors.initials: T
authors.lastname: Grisar
authors.forename: W
authors.initials: W
authors.lastname: Marg
authors.forename: A
authors.initials: A
authors.lastname: Müller
authors.forename: R
authors.initials: R
authors.lastname: Reinsch
authors.forename: N W
authors.initials: NW
authors.lastname: Barton
authors.forename: P
authors.initials: P
authors.lastname: Guiraud
authors.forename: A
authors.initials: A
authors.lastname: Joannard
mesh_terms: D002675:Child, Preschool; D005260:Female; D005786:Gene Expression Regulation / Q000502:physiology*; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome